Phenotypes associated with this allele

• Allele Symbol: Birc6^tm1Sjen
• Allele Name: targeted mutation 1, Stefan Jentsch
• Allele ID: MGI:3512417
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Birc6^tm1Sjen/Birc6^tm1Sjen	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3513418

Genotype
MGI:3513418

hm1

• Allelic Composition: Birc6^tm1Sjen/Birc6^tm1Sjen
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:94169 )

• homozygotes die during or shortly after birth

cardiovascular system

abnormal placenta vasculature ( J:94169 )

• placental fetal blood vessels display decreased branching, are highly variable in thickness, and form a less dense vasculature

abnormal placental labyrinth vasculature morphology ( J:94169 )

• dilated fetal capillaries and maternal sinusoids

hemorrhage ( J:94169 )

• between E12 and E14, 34% of embryos display transient bleeding into the neural tube

intraventricular hemorrhage ( J:94169 )

• between E12 and E14, 34% of embryos display transient intraventricular bleeding

cellular

decreased cell proliferation ( J:94169 )

• mutant MEFs grow slower reaching only about 70% of normal culture density of wild-type MEFs

embryo

abnormal placenta vasculature ( J:94169 )

• placental fetal blood vessels display decreased branching, are highly variable in thickness, and form a less dense vasculature

abnormal placental labyrinth vasculature morphology ( J:94169 )

• dilated fetal capillaries and maternal sinusoids

abnormal placenta labyrinth morphology ( J:94169 )

• organization of the labyrinth layer is delayed and the labyrinth is less dense

small placenta ( J:94169 )

• the placenta appears smaller and paler compared to wild-type

• proliferation of cells within the placenta is reduced with almost no proliferating cells visible in the spongiotrophoblast at E11.5

abnormal trophoblast layer morphology ( J:94169 )

• at E15.5 cells that would normally become giant cells are slightly enlarged but do not reach the typical giant cell shape

abnormal spongiotrophoblast layer morphology ( J:94169 )

• proliferation of cells within the placenta is reduced with almost no proliferating cells visible in the spongiotrophoblast at E11.5

• at E13.5 - E17.5, the spongiotrophoblast is thinner than normal

abnormal embryonic hematopoiesis ( J:94169 )

• the elimination of nuclei from red blood cells is delayed, with about 50% of red cells at E15.5 still nucleated

hematopoietic system

abnormal embryonic hematopoiesis ( J:94169 )

• the elimination of nuclei from red blood cells is delayed, with about 50% of red cells at E15.5 still nucleated

abnormal definitive hematopoiesis ( J:94169 )

• the elimination of nuclei from red blood cells is delayed, with about 50% of red cells at E15.5 still nucleated

nervous system

intraventricular hemorrhage ( J:94169 )

• between E12 and E14, 34% of embryos display transient intraventricular bleeding

growth/size/body

fetal growth retardation ( J:94169 )

• from about E13.5 onwards, growth retardation is seen

integument

pallor ( J:94169 )

• embryos appear pale and the major blood vessels in the embryo and yolk sac are often not clearly visible